Article
Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively.
American journal of human genetics - 1 Aug 2001
Lu K, Lee M H, Hazard S, Brooks-Wilson A, Hidaka H, Kojima H, Ose L, Stalenhoef A F, Mietinnen T, Bjorkhem I, Bruckert E, Pandya A, Brewer H B, Salen G, Dean M, Srivastava A, Patel S B
Abstract excerpt
Sitosterolemia is a rare autosomal recessive disorder characterized by (a) intestinal hyperabsorption of all sterols, including cholesterol and plant and shellfish sterols, and (b) impaired ability to excrete sterols into bile. Patients with this disease have expanded body pools of cholesterol and very elevated plasma plant-sterol species and frequently develop tendon and tuberous xanthomas, accelerated...
Topics
- ATP Binding Cassette Transporter, Subfamily G, Member 5
- ATP Binding Cassette Transporter, Subfamily G, Member 8
- ATP-Binding Cassette Transporters
- Alternative Splicing
- Amino Acid Sequence
- Animals
- Base Sequence
- Consanguinity